Background. Auto-immune mediated anti-NMDA receptor encephalitis is a very common delayed diagnosed encephalitis which predominately affecting young population. Objectives. This encephalitis is relatively unknown amongst emergency physicians and a majority of patients are admitted to psychiatric wards before their diagnosis is confirmed and appropriate treatments are commenced. We reported a case of a 22-year-old female presented to our emergency department with acute psychiatric symptoms. She was initially diagnosed with first presentation of acute psychosis and was hospitalised under mental health act. further assessment in the emergency department identified possible an organic cause for her acute psychosis and she was later admitted under medical team after her mental health assessment order was revoke. Several days later, her CSF result was positive with anti-NMDA receptor anti-bodies. Appropriate treatments were instituted leading to her full recovery. Conclusion. This case was the first confirmed anti-NMDA receptor encephalitis in our emergency department. It highlights the importance of thorough assessment of psychiatric presentations to emergency departments and consideration of auto-immune medicated encephalitis as one of the differential diagnosis in young patients presenting with first acute psychotic episode.

Background Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. However, the lack of high-certainty evidence and the inadequacy of accepted metrics to measure health status continues to present challenges in FRDA and other rare diseases. To overcome these challenges, the Grading of Recommendations Assessment and Evaluation (GRADE) framework for rare diseases developed by the RARE-Bestpractices Working Group was adopted to update the clinical guidelines for FRDA. This approach incorporates additional strategies to the GRADE framework to support the strength of recommendations, such as review of literature in similar conditions, the systematic collection of expert opinion and patient perceptions, and use of natural history data. Methods A panel representing international clinical experts, stakeholders and consumer groups provided oversight to guideline development within the GRADE framework. Invited expert authors generated the Patient, Intervention, Comparison, Outcome (PICO) questions to guide the literature search (2014 to June 2020). Evidence profiles in tandem with feedback from individuals living with FRDA, natural history registry data and expert clinical observations contributed to the final recommendations. Authors also developed best practice statements for clinical care points that were considered self-evident or were not amenable to the GRADE process. Results Seventy clinical experts contributed to fifteen topic-specific chapters with clinical recommendations and/or best practice statements. New topics since 2014 include emergency medicine, digital and assistive technologies and a stand-alone section on mental health. Evidence was evaluated according to GRADE criteria and 130 new recommendations and 95 best practice statements were generated. Discussion and conclusion Evidence-based CMGs are required to ensure the best clinical care for people with FRDA. Adopting the GRADE rare-disease framework enabled the development of higher quality CMGs for FRDA and allows individual topics to be updated as new evidence emerges. While the primary goal of these guidelines is better outcomes for people living with FRDA, the process of developing the guidelines may also help inform the development of clinical guidelines in other rare diseases.

Highlights The semiological hallmark of anti-LGI-1 antibody encephalitis is 'FBDS'. These seizures are not always dystonic in nature and sometimes of a mixed phenotype. The case of a patient with faciobrachial tonic-myoclonic seizures is presented. The phenotypes include tonic, clonic, dystonic and myoclonic +/- plus features. ‘Faciobrachial motor seizures’ is a more apt description for these seizures.

We complement the authors for their rigorous development of an ICU triage score for patients with intracerebral hemorrhage (ICH), including external validation methods. 1 However, we do have concerns about their methodology.The study only included patients with primary ICH, which is frequently unknown at presentation and diagnosed after admission. We believe that an ICU triage scoring system should only include information available at presentation, not information obtained after admission. We derived an ICH triage score which includes all patients with ICH and found that the presence of definite arteriovenous malformation on the CT angiogram at presentation can provide valuable information for triage. 2